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Gene entry

C1QTNF5

C1q and TNF related 5

Chromosome
11
Cytoband
11q23.3
Variants (rsID)
9

C1QTNF5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q23.3). Its official name is “C1q and TNF related 5”. The reference table lists 9 variants (rsID) for this gene.

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Clinically classified variants

8 reference-table entries with clinical significance.

  • rs35885438Benignsingle nucleotide variantRetinal degeneration|Isolated microphthalmia 6|Isolated microphthalmia 5
  • rs36015759Benignsingle nucleotide variantIsolated microphthalmia 6|Retinal degeneration|Isolated microphthalmia 5
  • rs4639950Benignsingle nucleotide variantRetinal degeneration|Isolated microphthalmia 5|Late-onset retinal degeneration
  • rs150902999Conflicting interpretationssingle nucleotide variantRetinal degeneration|Isolated microphthalmia 5
  • rs187321874Conflicting interpretationssingle nucleotide variantRetinal degeneration|Isolated microphthalmia 6|Isolated microphthalmia 5
  • rs199473709Conflicting interpretationssingle nucleotide variantIsolated microphthalmia 6|Retinal degeneration|Isolated microphthalmia 5
  • rs883247Likely benignsingle nucleotide variantRetinal degeneration|Isolated microphthalmia 6
  • rs111033578Pathogenicsingle nucleotide variantLate-onset retinal degeneration|Retinal dystrophy

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.